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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0005283 | beta Thalassemia | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0005283 | beta Thalassemia | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0005283 | beta Thalassemia | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0005283 | beta Thalassemia | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0005283 | beta Thalassemia | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0005283 | beta Thalassemia | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C0005283 | beta Thalassemia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0005283 | beta Thalassemia | KL | 9365 | klotho | Q9UEF7 |
| C0005283 | beta Thalassemia | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0005283 | beta Thalassemia | CD38 | 952 | CD38 molecule | P28907 |
| C0005283 | beta Thalassemia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0005283 | beta Thalassemia | ANXA5 | 308 | annexin A5 | P08758 |
| C0005283 | beta Thalassemia | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0005283 | beta Thalassemia | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0005283 | beta Thalassemia | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0005283 | beta Thalassemia | SELP | 6403 | selectin P | P16109 |
| C0005283 | beta Thalassemia | CAT | 847 | catalase | P04040 |
| C0005283 | beta Thalassemia | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0005283 | beta Thalassemia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0005283 | beta Thalassemia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0005283 | beta Thalassemia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0005283 | beta Thalassemia | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0002312 | alpha-Thalassemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0002312 | alpha-Thalassemia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0002312 | alpha-Thalassemia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
